Forgive me for the length of our story, but it has been quite the journey, full of twists and turns. This is the first time I have typed up the full thing, 7 ½ years later, and the emotions are still so raw and the trauma very real and present. When your child is fighting for her life and you are faced with having to say goodbye to her, your own feelings get pushed aside in order to be there for her and your family, completely. Doctors don’t take you as seriously when you break down so you numb yourself to save face with them. So, here goes…

August 26th, 2008, I walked into labor and delivery, calm as could be and so excited to meet my third child. I had dreamed of the moment I would look into my little girl’s eyes and feel a connection unique to the one I shared with my 2 sons. Her birth was perfect and everything I hoped it would be. She had Apgar scores of 9 and 9. She didn’t get a perfect score only because she didn’t cry. Instead, she looked at me and around the room in wonder at this new world she was seeing. She latched on and nursed until she fell asleep. It was a cherished, albeit brief moment of bliss.

As family and her brothers came in to meet her, she jerked hard in my arms and started crying. It took a good 15 minutes to calm her and a knot began to form in my stomach. Something wasn’t right, but I couldn’t accept it yet. I just needed to be able to enjoy her. Over the next day while we were in the hospital, she started sleeping more, waking and feeding less, and having more of the strange jerking episodes. The pediatrician saw one while examining her and assured me it was nothing. I wanted so badly to believe her so I took my Emma Rose home.

The next couple days, I could not ignore the massive, quickly growing knot in my stomach. I couldn’t wake her to feed her and finally, during one of the scary jerky episodes, she turned blue, sending us rushing to the ER. She was treated for jaundice and I was told to take her home, that she would be fine. But I knew we would not be fine and insisted they transport her to a children’s hospital. The strange, fast jerks I felt while pregnant with her had not been normal after all. Upon admittance to the PICU at 4 days old and verification she was having at least one seizure every hour, I realized she had been having them inutero beginning in the 3rd trimester.

She spent a week in PICU and was started on phenobarbital. During this time, I was not allowed to nurse her and had to wear a mask, gown, and gloves when I was near her. A complete workup, including things like herpes and shaken baby syndrome, came back normal and she was discharged. We were home 3 days before the seizures started again. I spent 2 weeks trying to get the neurologist to do something and was ignored. I switched her to a different neurologist and a different hospital. This doctor completed his own tests and tried a trial of IV pyridoxine. During this stay, they attempted to get CSF and tried 12 times with no success.

They added Topamax and that was the extent of their attempts at diagnosing and helping her. I asked about an overnight EEG and he dismissed her movements as most likely being due to acid reflux. She was having so many a day, I couldn’t keep up with logging them all so I insisted on an overnight EEG. They did one to appease me and the next morning, told me she was indeed having seizures, but so what? I was overreacting and was perfectly capable of treating them at home. After all, it wasn’t like she had infantile spasms. I took her home, worried and very discouraged.

Around the same time, I met a woman online who had a similar story with her daughter and told me there was a neurologist in Memphis, TN who had saved her little girl’s life. He listened and cared. I contacted the coordinator for the epilepsy monitoring unit and she had me sign a form so they could get her records from the previous hospital. They received them that very day and that night, she called me and said the neurologist wanted us there ASAP; he knew he could help Emma. I used my mortgage payment to buy that plane ticket. I had no idea that mortgage payment was probably saving Emma’s life.

The next morning, Emma was hooked to the EEG and by that evening, she had a diagnosis of infantile spasms. We spent Thanksgiving in Memphis, away from family, learning all about ACTH injections. Keppra was also added during this stay and a week later, we flew home to begin 6 weeks of daily steroid injections. The first few, her doctor administered for me, but after that I sucked it up and started doing it myself. Emma developed severe Cushing’s, stopped smiling and moving, and was never comfortable. About 4 weeks later, we flew back to Memphis and her neurologist began the weaning process. I made the decision to continue taking Emma to see him after the horrible experiences we had with the previous neurologists. For the next year, we flew there every 3 months, sometimes more, for follow-ups with him.

During that time, Emma began having seizures in her sleep. It took me a good month to put two and two together and set up a video recording to capture why she was waking up screaming. We went to Memphis for another stay and that was when Klonopin was added and the Topamax was weaned. She also had her first UTI during this stay and would later be diagnosed with kidney reflux. A month later, I convinced him to wean the phenobarbital and she started using her hands more and rolling. I was convinced we were headed in a good direction and began to breathe normally again.

A friend of mine with connections got Emma in to see a well-known geneticist at Cleveland Clinic in the hopes of getting a diagnosis. The “hard to control epilepsy” one we had gotten thus far just wasn’t sitting right with me. He spent hours with us at the first appointment and ordered lots of tests. He believed she had a metabolic condition and the testing was geared in that direction. Everything came back normal. Around 18 months of age, Emma stopped drinking. She was hospitalized with dehydration frequently and her entire body was a yellowish tinge. By the time she was 3, she hadn’t gained weight in over a year and was diagnosed with microcephaly. The geneticist told me he believed she had something degenerative or “progressive” was his favored term. I began planning her funeral.

I wrote a long letter pleading with NIH to accept her into their undiagnosed disease program. A couple months after sending the letter, I decided a g-tube was needed to keep her alive. Believe it or not, I had to fight for this too. The GI doctor told me it wasn’t necessary, that she should be getting enough fluids from her baby food. I had a hard time accepting that no one could tell me why my daughter was fading and seemingly, no one wanted to do their jobs! They performed the routine pre-surgery testing and discovered the malrotated bowel that had somehow gone undiagnosed for three years. Her surgery was scheduled fairly quickly because the doctors were alarmed at the discovery. They fixed her bowel, performed a muscle biopsy to test for mitochondrial disease, and placed the g-tube. In the next 6 months, Emma doubled her weight, lost the yellow tinge, and her head size slowly started increasing.

That summer, Emma received her mito complex III diagnosis and I received a letter from NIH saying they had accepted her into their UDP. She stayed there for a week in December 2011, but they were unable to give us any answers. Throughout this time, I ran out of energy many times. I knew we just needed to find the right doctor who could look at Emma and know, but we had so many negative experiences and I was so tired of looking for one. On top of that, not many people agreed with or supported my searching. They thought I wasn’t able to just accept my girl, but all I could think about were the many times the doctors had been wrong. A few of those times almost cost Emma her life and I was the only one who could and was willing to speak for her.

In January 2013, I happened across an incredible story of hope through TGen laboratories in Arizona. I called them and asked what they could do for Emma. They told me to fill out an application for a research study and they would get back to me if she fit the criteria. They responded fairly quickly that she did and sent me the DNA packets for the whole exome sequencing. They told me it would be about a year before we had results. On December 18th, 2013, I received the call with her diagnosis. It was the best gift anyone has given me. It was surreal to be listening to

them name and describe this thing we had been chasing for 5 ½ years. This diagnosis that changed our lives, changed who I was, and changed the course of our family’s future.

After hanging up with the doctors and researchers at TGen, I went upstairs to Emma’s room and watched her sleep. I looked at my little girl and felt a connection so unique to the one I have with my 2 sons. Ever since then, it has been a cherished, forever moment of bliss. It’s difficult to explain, but I felt like I didn’t completely know her without knowing the part of her that she was fighting against. I felt like there was a very important part of her in the shadows, undiscovered and unknown by me. Even though the battle for a treatment continues, we now have a huge support network who shares in our struggles, a family who understands firsthand, and fights alongside us.